Canonical Allele Identifier: CA469788921

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2733715
• ClinVar RCV Id: RCV003562183
• dbSNP Id: rs1590405614
• MyVariant Identifiers: chr10:g.50678517A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470471A>G , CM000672.2:g.49470471A>G	GRCh38
NC_000010.10:g.50678517A>G , CM000672.1:g.50678517A>G	GRCh37
NC_000010.9:g.50348523A>G	NCBI36
NG_009442.1:g.73631T>C , LRG_465:g.73631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3489T>C MANE Select	ENSP00000348089.5:p.Ala1163=
ENST00000679552.1:n.560T>C
ENST00000679871.1:n.635T>C
ENST00000679974.1:n.538T>C
ENST00000681632.1:n.4892T>C
ENST00000681659.1:c.3330T>C	ENSP00000505631.1:p.Ala1110=
ENST00000355832.9:c.3489T>C	ENSP00000348089.5:p.Ala1163=
ENST00000623073.3:c.*1785T>C	ENSP00000485650.1:n.*1785T>C
ENST00000623115.3:c.1599T>C	ENSP00000485321.1:p.Ala533=
ENST00000624341.3:c.1321T>C
NM_000124.3:c.3489T>C	NP_000115.1:p.Ala1163=
XR_945953.1:n.243-1094A>G
NM_001346440.1:c.3489T>C	NP_001333369.1:p.Ala1163=
NM_000124.4:c.3489T>C MANE Select	NP_000115.1:p.Ala1163=
NM_001346440.2:c.3489T>C	NP_001333369.1:p.Ala1163=